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Journal Abstract Search

209 related items for PubMed ID: 8311994

  • 1. Research update on lysosomal disorders with special emphasis on metachromatic leukodystrophy and Krabbe disease.
    Wenger DA.
    APMIS Suppl; 1993; 40():81-7. PubMed ID: 8311994
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  • 2. [Pathophysiology of sulfatide metabolism in metachromatic leukodystrophy].
    Wiesmann UN.
    Bull Schweiz Akad Med Wiss; 1978 Mar; 34(1-3):33-47. PubMed ID: 27269
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  • 7. Lysosomal leukodystrophies: Krabbe disease and metachromatic leukodystrophy.
    Kohlschütter A.
    Handb Clin Neurol; 2013 Mar; 113():1611-8. PubMed ID: 23622382
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  • 8. Exocytosis of storage material in a lysosomal disorder.
    Klein D, Büssow H, Fewou SN, Gieselmann V.
    Biochem Biophys Res Commun; 2005 Feb 18; 327(3):663-7. PubMed ID: 15649398
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  • 9. Characterization of the rhesus monkey galactocerebrosidase (GALC) cDNA and gene and identification of the mutation causing globoid cell leukodystrophy (Krabbe disease) in this primate.
    Luzi P, Rafi MA, Victoria T, Baskin GB, Wenger DA.
    Genomics; 1997 Jun 01; 42(2):319-24. PubMed ID: 9192853
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  • 10. Metachromatic leukodystrophy without arylsulfatase A deficiency: a new case of saposin-B deficiency.
    Deconinck N, Messaaoui A, Ziereisen F, Kadhim H, Sznajer Y, Pelc K, Nassogne MC, Vanier MT, Dan B.
    Eur J Paediatr Neurol; 2008 Jan 01; 12(1):46-50. PubMed ID: 17616409
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  • 11. Metachromatic leukodystrophy--an update.
    Gieselmann V, Krägeloh-Mann I.
    Neuropediatrics; 2010 Feb 01; 41(1):1-6. PubMed ID: 20571983
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  • 18. Characterization of urinary sulfatides in metachromatic leukodystrophy using electrospray ionization-tandem mass spectrometry.
    Whitfield PD, Sharp PC, Johnson DW, Nelson P, Meikle PJ.
    Mol Genet Metab; 2001 May 01; 73(1):30-7. PubMed ID: 11350180
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  • 19. Metachromatic leukodystrophy: subtype genotype/phenotype correlations and identification of novel missense mutations (P148L and P191T) causing the juvenile-onset disease.
    Qu Y, Shapira E, Desnick RJ.
    Mol Genet Metab; 1999 Jul 01; 67(3):206-12. PubMed ID: 10381328
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  • 20. A spontaneously immortalized Schwann cell line to study the molecular aspects of metachromatic leukodystrophy.
    Saravanan K, Büssow H, Weiler N, Gieselmann V, Franken S.
    J Neurosci Methods; 2007 Apr 15; 161(2):223-33. PubMed ID: 17204333
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